F. Kammoun

发表

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

A. Tlili, Nadege Kammoun Jellouli, I. H. Salem, 2013, Gene.

Clinical Dynamic Decision Support System based on temporal association rules

Mounir Ben Ayed, F. Kammoun, 2014, 2nd Middle East Conference on Biomedical Engineering.

Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.

F. Kammoun, F. Fakhfakh, M. Hachicha, 2016, Biochemical and biophysical research communications.

Central diabetes insipidus revealing a hypophysitis induced by SARS-CoV-2 vaccine

F. Kammoun, K. Ach, T. Ach, 2022, Therapies.

Molecular-Clinical Correlation in a Family With a Novel Heteroplasmic Leigh Syndrome Missense Mutation in the Mitochondrial Cytochrome c Oxidase III Gene

F. Kammoun, F. Fakhfakh, I. Chamkha, 2011, Journal of child neurology.

First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome

F. Kammoun, F. Fakhfakh, C. Triki, 2019, International Journal of Developmental Neuroscience.

New mutation c.374C>T and a putative disease‐associated haplotype within SCN1B gene in Tunisian families with febrile seizures

Ahmed Rebai, I. H. Salem, F. Kammoun, 2011, European journal of neurology.

The First Genome-Wide Scan in a Tunisian Family With Generalized Epilepsy With Febrile Seizure Plus (GEFS+)

Ahmed Rebai, I. H. Salem, N. Louhichi, 2010, Journal of child neurology.

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2009, European journal of neurology.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

A. Souissi, Ikhlas Ben Ayed, S. Masmoudi, 2021, Molecular genetics & genomic medicine.

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

L. Vallée, O. Boespflug-Tanguy, M. Tardieu, 2004, Journal of Medical Genetics.

Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero

P. Landrieu, H. Bensahel, F. Kammoun, 2004, American journal of medical genetics. Part A.

SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition

A. Alimi, W. Ouarda, N. Kharrat, 2021, American journal of medical genetics. Part A.

A De Novo Mutation in the Adenosine Triphosphatase (ATPase) 8 Gene in a Patient With Mitochondrial Disorder

F. Kammoun, F. Fakhfakh, I. Chamkha, 2010, Journal of child neurology.

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2011, Biochemical and biophysical research communications.

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

L. Villard, F. Kammoun, F. Fakhfakh, 2021, Orphanet Journal of Rare Diseases.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation

F. Kammoun, F. Fakhfakh, C. Triki, 2020, Acta Neurologica Belgica.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation

F. Kammoun, F. Fakhfakh, C. Triki, 2020, Acta Neurologica Belgica.

How MRI can contribute to the diagnosis of acute demyelinating encephalomyelitis in children.

J. Mnif, F. Kammoun, M. Hachicha, 2011, Neurosciences.

A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature

A. Souissi, Mariem Ben Said, Ikhlas Ben Ayed, 2023, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

Mutation in the β‐tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism

F. Kammoun, F. Fakhfakh, C. Triki, 2023, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

F. Kammoun, F. Fakhfakh, M. Hachicha, 2009, Molecular genetics and metabolism.

Development, validity and reliability of the systematic screening for handwriting difficulties tool 

B. Smits-Engelsman, W. Moalla, F. Kammoun, 2024, F1000Research.

Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.

F. Kammoun, F. Fakhfakh, M. Hachicha, 2016, Biochemical and biophysical research communications.